摘要:

AbstractAn infant with ambiguous genitalia, uterus, tubes, and bilaterally undescended testes was found to have an unstable dicentric Yq chromosome, and 45,X/46,X,dic i(Yq)/47,X,i(Yq) i(Yq) mosaicism in lymphocytes and fibroblasts. A few other minor cell lines were found in peripheral blood lymphocytes. These findings indicate a high degree of mitotic instability in the centromere of the dicentric i(Yq) chromosome in this patient.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010302

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1978

数据来源: WILEY

摘要:

AbstractAn 18 month‐old boy with partial duplication of the long arm of chromosome 2, based on a paternal balanced translocation, 46,XY,ins (12,2)(q23;q33q37), is described and compared with five previously reported cases. These children have in common a short nose with broad flat bridge and small anteverted nostrils, long upper lip, low‐set ears, and minor digital anomal

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010303

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1978

数据来源: WILEY

摘要:

AbstractWe report two patients with a similar syndrome of gross malformation of a lower limb and contiguous structures due to involvement with dysplastic, teratomatous tissue. This dysplasia seems to have arisen in a paramedian position in the embryonic hindquarter at the time of lower limb‐bud differentiation. Malignant degeneration at 5–7 months led to metastases and death in both cases around 1 year of age. The behavior of the dysplastic/oncoplastic tissue suggests a 2‐“mutational” causal model. This is an apparently previously undescribed formal genesis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010304

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1978

数据来源: WILEY

摘要:

AbstractTwo severely mentally retarded brothers are described who had a similar facial appearance, cataracts, short stature, minor digital abnormalities, and primary hypogonadism. Their parents were first cousins. Numerous laboratory investigations failed to elucidate a basic metabolic cause for their disorder.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010305

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1978

数据来源: WILEY

摘要:

AbstractThe frequency of minor chromosome variants, as detected by conventional chromosome analysis, was examined among 1,289 child psychiatric patients, of whom one‐fourth had only behavioral problems and three‐fourths had congenital abnormalities and more severe mental disorders. There was no more than random association between prominent satellites, prominent secondary constrictions or a long Y chromosome, and congenital abnormalities or more severe mental disorders. The frequencies of these chromosome variants were affected by race as has been shown in previous studies. These findings do not support the evidence for a developmental effect of minor variants in

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010306

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1978

数据来源: WILEY

摘要:

AbstractWe describe an X/15 translocation which was balanced in a phenotypically normal mother [46,X,t(X;15) (p22;q15)] and unbalanced in her phenotypically abnormal daughter [46,X,der(X),t(X;15) (p22;q15)mat]. A third case involves a balanced X/21 translocation in a girl with a multiple congenital anomaly‐retardation syndrome [46,X,t(X;21) (p11;p11?)]. 5‐Brd U acridine orange banding on lymphocytes revealed late replication of the normal × chromosome in the mother and of the normal or abnormal × chromosome in the two other cases. Our findings are only partially consistent with previous observations. All X‐inactivation patterns can be explained by random inactivation and subsequent selection against specific cell lines. Furthermore, the findings in our patient with X/21 translocation support the hypothesis of the existence of one inactivation cente

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010307

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1978

数据来源: WILEY

摘要:

AbstractThis report describes a family with apparent autosomal dominant transmission of congenital annular pancreas. Four individuals in two generations were affected; all developed duodenal obstruction. The implications for genetic counseling are discussed.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010308

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1978

数据来源: WILEY

摘要:

AbstractThe frequency of triploid conceptuses in man is estimated to be approximately 1%; most are aborted during the first trimester. There are reports of 31 triploid fetuses which survived past the 24th week of gestation, including several infants born at term. We are unaware of a report of the prenatal diagnosis of triploidy.A typical clinical syndrome has been delineated in nonmosaic triploid fetuses and infants, including intrauterine growth retardation, syndactyly, eye and ear abnormalities, hypogonadism in males, and hydatidiform placenta.A 32‐year‐old primigravida presented with small uterine size at 16 weeks gestation. Subsequently the uterus grew very slowly. Ultrasound examination at 23 weeks revealed a fetal head size consistent with 20 weeks gestation and a thoracic diameter consistent with 14 weeks. Amniocentesis was done for karyotype analysis and α‐fetoprotein determination. Amniography showed a small fetus with obvious disproportion between head and trunk. Abortion was induced with prostaglandin. The fetus had features consistent with the triploidy syndrome, and the amniotic fluid cells were later found to have a 69,XXY karyotype. Chromosomal polymorphisms of the fetus and parents indicated that the supernumerary haploid set of chromosomes originated from failure of the second meiotic division in the mother.This case illustrates the way in which the combined use of amniocentesis, ultrasonography, and radiographic techniques can be advantageous in prenatal diagnosis and genetic counseling, especially when the patient is relatively late in pregnancy so that it is necessary to obtain a rapid dia

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010309

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1978

数据来源: WILEY

摘要:

AbstractDyslexia, or specific reading disability, has been shown in many studies to be familial, though no simple mode of inheritance accounts for all pedigrees. It is likely that the difficulties of genetic analysis are due to heterogeneity within the phenotype. We have undertaken a series of studies of normally intelligent children with dyslexia and their families in a search for phenotypic and genetic evidence of heterogeneity. Family histories with specific attention to difficulties in learning to read and spell were taken for 21 families. School test results were available for probands. Spelling was analyzed and anecdotal information assessed to determine whether visual or auditory difficulties predominated. Among the probands, 11 had predominantly visual problems (with preference for orally presented material) and phonetic spelling errors; 7 had predominantly auditory problems (with preference for visually presented materials), mispronunciations, and dysphonetic spelling errors; and 3 had mixed features. Visual and auditory evoked responses were measured on all the probands and some of the family members, in a search for neurophysiological evidence of abnormality or asymmetry of response. No significant differences were found between hemispheres, between those with visual‐ and those with auditorypredominant dyslexia, or between left‐handed and right‐handed individuals. Both anecdotal family histories and spelling performances provide suggestive evidence that dyslexic patients may be delineated into subgroups with predominantly visual or predominantly auditory impairment and that these subtypes may be under separate genetic predisposition. Further neurophysiological investigation will be required to devise ways of identifying cases before learning disability becomes an educational pr

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010310

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1978

数据来源: WILEY

摘要:

AbstractRecently Langer et al [1] described the childhood manifestations of acromesomelic dwarfism. Their oldest patient was 35 years old; in their review, only one patient was married and had produced two normal children. Apparent gonadal dysfunction was noted in several patients. I report the oldest known patient with acromesomelic dwarfism; she had no gonadal dysfunction, was married, and had two normal sons.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320010311

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1978

数据来源: WILEY